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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


140 records found for search term Srgap3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15100146CV730243single nucleotide variantNM_014850.4(SRGAP3):c.67+9C>Anot provided [RCV000892057]likely benign392488769248876Humanname
15188579CV774911single nucleotide variantNM_014850.4(SRGAP3):c.424-7A>Gnot provided [RCV000931987]likely benign390800949080094Humanname
15140097CV744044single nucleotide variantNM_014850.4(SRGAP3):c.1919+9C>Gnot provided [RCV000899258]likely benign390137289013728Humanname
15161215CV759372single nucleotide variantNM_014850.4(SRGAP3):c.2228-6T>Cnot provided [RCV000925640]likely benign389945298994529Humanname
405283496CV3217178single nucleotide variantNM_014850.4(SRGAP3):c.1408+10C>GSRGAP3-related disorder [RCV003979276]benign390473819047381Humanname , trait , alternate_id
15132136CV709062single nucleotide variantNM_014850.4(SRGAP3):c.51T>C (p.Tyr17=)SRGAP3-related disorder [RCV003972834]|not provided [RCV000964727]benign392489019248901Humanname , trait , alternate_id
598239507CV3912125single nucleotide variantNM_014850.4(SRGAP3):c.23A>G (p.Lys8Arg)not specified [RCV005276029]uncertain significance392489299248929Humanname
15185637CV734320single nucleotide variantNM_014850.4(SRGAP3):c.171T>G (p.Ala57=)SRGAP3-related disorder [RCV003895529]|not provided [RCV000908583]likely benign391248149124814Humanname , trait , alternate_id
15127713CV748543single nucleotide variantNM_014850.4(SRGAP3):c.150G>A (p.Gln50=)not provided [RCV000919539]likely benign391248359124835Humanname
156182993CV2243181single nucleotide variantNM_014850.4(SRGAP3):c.63A>G (p.Ile21Met)not specified [RCV004110076]uncertain significance392488899248889Humanname
156070627CV2318893single nucleotide variantNM_014850.4(SRGAP3):c.96C>A (p.Phe32Leu)not specified [RCV004175792]uncertain significance391248899124889Humanname
401728797CV2673050single nucleotide variantNM_014850.4(SRGAP3):c.85G>A (p.Val29Met)not specified [RCV004284039]uncertain significance391249009124900Humanname
405276630CV3198547single nucleotide variantNM_014850.4(SRGAP3):c.858A>T (p.Ser286=)SRGAP3-related disorder [RCV003903877]likely benign390584169058416Humanname , trait , alternate_id
405278293CV3221800single nucleotide variantNM_014850.4(SRGAP3):c.969T>C (p.Asn323=)SRGAP3-related disorder [RCV003976371]benign390583059058305Humanname , trait , alternate_id
405779118CV3330574single nucleotide variantNM_014850.4(SRGAP3):c.96C>G (p.Phe32Leu)not specified [RCV004458342]uncertain significance391248899124889Humanname
15195968CV698301single nucleotide variantNM_014850.4(SRGAP3):c.975C>G (p.Val325=)SRGAP3-related disorder [RCV003970776]|not provided [RCV000956069]benign390582999058299Humanname , trait , alternate_id
15150671CV709060single nucleotide variantNM_014850.4(SRGAP3):c.870C>T (p.Asn290=)SRGAP3-related disorder [RCV003916247]|not provided [RCV000967990]benign390584049058404Humanname , trait , alternate_id
15150679CV709061single nucleotide variantNM_014850.4(SRGAP3):c.700C>T (p.Leu234=)SRGAP3-related disorder [RCV003972872]|not provided [RCV000967991]benign390603329060332Humanname , trait , alternate_id
15099573CV720652single nucleotide variantNM_014850.4(SRGAP3):c.753C>T (p.Asn251=)not provided [RCV000891965]likely benign390602799060279Humanname
15131699CV734317single nucleotide variantNM_014850.4(SRGAP3):c.615C>T (p.His205=)SRGAP3-related disorder [RCV003958084]|not provided [RCV000897821]|not specified [RCV005278689]likely benign390644539064453Humanname , trait , alternate_id
15135272CV734318single nucleotide variantNM_014850.4(SRGAP3):c.606G>A (p.Leu202=)SRGAP3-related disorder [RCV003922914]|not provided [RCV000898428]likely benign390644629064462Humanname , trait , alternate_id
15131703CV734319single nucleotide variantNM_014850.4(SRGAP3):c.531G>A (p.Ala177=)SRGAP3-related disorder [RCV003950501]|not provided [RCV000897822]benign|likely benign390645379064537Humanname , trait , alternate_id
15161039CV748542single nucleotide variantNM_014850.4(SRGAP3):c.315G>A (p.Gln105=)not provided [RCV000925605]likely benign391047889104788Humanname
15134900CV781814single nucleotide variantNM_014850.4(SRGAP3):c.798C>T (p.Ile266=)not provided [RCV000981829]likely benign390602349060234Humanname
401922053CV2819847single nucleotide variantNM_014850.4(SRGAP3):c.2871C>T (p.Ala957=)not provided [RCV003433376]likely benign389905278990527Humanname
405286783CV3192961single nucleotide variantNM_014850.4(SRGAP3):c.1164G>A (p.Gln388=)SRGAP3-related disorder [RCV003981649]likely benign390531869053186Humanname , trait , alternate_id
405295478CV3215967single nucleotide variantNM_014850.4(SRGAP3):c.2634C>A (p.Gly878=)SRGAP3-related disorder [RCV003937386]likely benign389907648990764Humanname , trait , alternate_id
405779061CV3330564single nucleotide variantNM_014850.4(SRGAP3):c.224C>T (p.Ser75Phe)not specified [RCV004458332]uncertain significance391247619124761Humanname
405779071CV3330566single nucleotide variantNM_014850.4(SRGAP3):c.236G>A (p.Arg79His)not specified [RCV004458334]uncertain significance391247499124749Humanname
597778938CV3611392single nucleotide variantNM_014850.4(SRGAP3):c.274C>T (p.Leu92Phe)not specified [RCV004873413]uncertain significance391048299104829Humanname
597680507CV3611395single nucleotide variantNM_014850.4(SRGAP3):c.2280G>A (p.Pro760=)not specified [RCV004857413]likely benign389944718994471Humanname
598273655CV3912119single nucleotide variantNM_014850.4(SRGAP3):c.263A>G (p.Lys88Arg)not specified [RCV005282995]uncertain significance391048409104840Humanname
598273681CV3912127single nucleotide variantNM_014850.4(SRGAP3):c.2748G>A (p.Thr916=)not specified [RCV005283002]likely benign389906508990650Humanname
598162785CV3912129single nucleotide variantNM_014850.4(SRGAP3):c.124C>G (p.Arg42Gly)not specified [RCV005283004]uncertain significance391248619124861Humanname
15186639CV698299single nucleotide variantNM_014850.4(SRGAP3):c.1905C>T (p.Phe635=)SRGAP3-related disorder [RCV003915827]|not provided [RCV000953345]likely benign390137519013751Humanname , trait , alternate_id
15195965CV698300single nucleotide variantNM_014850.4(SRGAP3):c.1563T>G (p.Leu521=)SRGAP3-related disorder [RCV003915897]|not provided [RCV000956068]benign390269729026972Humanname , trait , alternate_id
15177612CV709057single nucleotide variantNM_014850.4(SRGAP3):c.2535C>T (p.Tyr845=)SRGAP3-related disorder [RCV003928556]|not provided [RCV000973471]benign389929298992929Humanname , trait , alternate_id
15155189CV709058single nucleotide variantNM_014850.4(SRGAP3):c.1860C>T (p.Leu620=)not provided [RCV000968879]likely benign390137969013796Humanname
15170922CV709059single nucleotide variantNM_014850.4(SRGAP3):c.1698C>T (p.Asp566=)SRGAP3-related disorder [RCV003928526]|not provided [RCV000972101]likely benign390157129015712Humanname , trait , alternate_id
15153780CV720649single nucleotide variantNM_014850.4(SRGAP3):c.2817G>A (p.Ser939=)SRGAP3-related disorder [RCV003967968]|not provided [RCV000880080]benign|likely benign389905818990581Humanname , trait , alternate_id
15184409CV720650single nucleotide variantNM_014850.4(SRGAP3):c.2376C>T (p.Leu792=)SRGAP3-related disorder [RCV003948373]|not provided [RCV000886440]benign389943758994375Humanname , trait , alternate_id
15180657CV734314single nucleotide variantNM_014850.4(SRGAP3):c.2163C>T (p.Ser721=)SRGAP3-related disorder [RCV003932923]|not provided [RCV000907406]benign390103729010372Humanname , trait , alternate_id
15126652CV734316single nucleotide variantNM_014850.4(SRGAP3):c.1212C>T (p.His404=)not provided [RCV000896965]likely benign390531389053138Humanname
15180150CV764185single nucleotide variantNM_014850.4(SRGAP3):c.2334G>A (p.Ser778=)not provided [RCV000929814]likely benign389944178994417Humanname
156357355CV2253963single nucleotide variantNM_014850.4(SRGAP3):c.718C>T (p.Arg240Trp)not specified [RCV004127637]uncertain significance390603149060314Humanname
156015799CV2298983single nucleotide variantNM_014850.4(SRGAP3):c.437G>A (p.Gly146Asp)not specified [RCV004158510]uncertain significance390800749080074Humanname
156204344CV2314131single nucleotide variantNM_014850.4(SRGAP3):c.445A>C (p.Met149Leu)not specified [RCV004166220]uncertain significance390800669080066Humanname
155925354CV2358311single nucleotide variantNM_014850.4(SRGAP3):c.376G>A (p.Val126Ile)not specified [RCV004212092]uncertain significance391047279104727Humanname
155903278CV2386471single nucleotide variantNM_014850.4(SRGAP3):c.779A>G (p.His260Arg)not specified [RCV004230837]uncertain significance390602539060253Humanname
329357370CV2427690single nucleotide variantNM_014850.4(SRGAP3):c.623G>A (p.Arg208Gln)not specified [RCV004252476]uncertain significance390644459064445Humanname
401742242CV2673736single nucleotide variantNM_014850.4(SRGAP3):c.935G>A (p.Arg312Gln)not specified [RCV004291084]uncertain significance390583399058339Humanname
401774869CV2713675single nucleotide variantNM_014850.4(SRGAP3):c.763A>G (p.Ser255Gly)not specified [RCV004321038]uncertain significance390602699060269Humanname
401737290CV2718060single nucleotide variantNM_014850.4(SRGAP3):c.710C>T (p.Thr237Ile)not specified [RCV004315782]uncertain significance390603229060322Humanname
401922054CV2819848single nucleotide variantNM_014850.4(SRGAP3):c.958G>A (p.Asp320Asn)not provided [RCV003433377]uncertain significance390583169058316Humanname
405779100CV3330571single nucleotide variantNM_014850.4(SRGAP3):c.386C>A (p.Ser129Tyr)not specified [RCV004458339]uncertain significance391047179104717Humanname
405779106CV3330572single nucleotide variantNM_014850.4(SRGAP3):c.632G>A (p.Arg211His)not specified [RCV004458340]uncertain significance390644369064436Humanname
405779112CV3330573single nucleotide variantNM_014850.4(SRGAP3):c.661A>C (p.Met221Leu)not specified [RCV004458341]uncertain significance390644079064407Humanname
408377711CV3510904deletionNM_014850.4(SRGAP3):c.1443del (p.Cys482fs)SRGAP3-related disorder [RCV004751168]uncertain significance390327469032746Humanname , trait , alternate_id
597778925CV3611389single nucleotide variantNM_014850.4(SRGAP3):c.889G>A (p.Glu297Lys)not specified [RCV004873410]uncertain significance390583859058385Humanname
597778929CV3611390single nucleotide variantNM_014850.4(SRGAP3):c.913G>A (p.Ala305Thr)not specified [RCV004873411]uncertain significance390583619058361Humanname
15126875CV709056single nucleotide variantNM_014850.4(SRGAP3):c.3036C>T (p.Pro1012=)SRGAP3-related disorder [RCV003916135]|not provided [RCV000963813]benign389857838985783Humanname , trait , alternate_id
15108010CV720651single nucleotide variantNM_014850.4(SRGAP3):c.971A>T (p.Gln324Leu)SRGAP3-related disorder [RCV003950424]|not provided [RCV000893589]likely benign390583039058303Humanname , trait , alternate_id
15183882CV734312single nucleotide variantNM_014850.4(SRGAP3):c.3222G>A (p.Ser1074=)not provided [RCV000908154]likely benign389855978985597Humanname
15104818CV748541single nucleotide variantNM_014850.4(SRGAP3):c.3132C>T (p.Ser1044=)not provided [RCV000915424]likely benign389856878985687Humanname
150407145CV1199927single nucleotide variantNM_014850.4(SRGAP3):c.2554G>A (p.Gly852Ser)SRGAP3-related disorder [RCV004752019]|not provided [RCV001579673]uncertain significance389929108992910Humanname , trait , alternate_id
156231639CV2199678single nucleotide variantNM_014850.4(SRGAP3):c.2579G>C (p.Gly860Ala)not specified [RCV004072414]uncertain significance389908198990819Humanname
156189424CV2205937single nucleotide variantNM_014850.4(SRGAP3):c.1322C>T (p.Thr441Ile)not specified [RCV004078367]uncertain significance390530289053028Humanname
156328905CV2213707single nucleotide variantNM_014850.4(SRGAP3):c.1286G>A (p.Arg429Lys)not specified [RCV004089780]uncertain significance390530649053064Humanname
156151306CV2245136single nucleotide variantNM_014850.4(SRGAP3):c.2662C>T (p.Arg888Trp)not specified [RCV004106925]uncertain significance389907368990736Humanname
155991090CV2276546single nucleotide variantNM_014850.4(SRGAP3):c.1263C>G (p.Ser421Arg)not specified [RCV004146046]uncertain significance390530879053087Humanname
156263724CV2329397single nucleotide variantNM_014850.4(SRGAP3):c.1672G>C (p.Glu558Gln)not specified [RCV004187409]uncertain significance390252679025267Humanname
156327192CV2332070single nucleotide variantNM_014850.4(SRGAP3):c.2125A>G (p.Met709Val)not specified [RCV004189119]uncertain significance390133309013330Humanname
155981835CV2351441single nucleotide variantNM_014850.4(SRGAP3):c.1112T>C (p.Ile371Thr)not specified [RCV004193127]uncertain significance390562469056246Humanname
156176964CV2355816single nucleotide variantNM_014850.4(SRGAP3):c.2409G>A (p.Met803Ile)not specified [RCV004201214]uncertain significance389930558993055Humanname
156248482CV2393954single nucleotide variantNM_014850.4(SRGAP3):c.1453C>T (p.Pro485Ser)not specified [RCV004236183]uncertain significance390327369032736Humanname
155996084CV2398494single nucleotide variantNM_014850.4(SRGAP3):c.2735G>A (p.Arg912Gln)not specified [RCV004237817]uncertain significance389906638990663Humanname
329392597CV2439060single nucleotide variantNM_014850.4(SRGAP3):c.1397C>T (p.Thr466Ile)not specified [RCV004266353]uncertain significance390474029047402Humanname
329378013CV2460980single nucleotide variantNM_014850.4(SRGAP3):c.2242G>C (p.Glu748Gln)not specified [RCV004265137]uncertain significance389945098994509Humanname
329385633CV2462124single nucleotide variantNM_014850.4(SRGAP3):c.2695A>T (p.Ile899Phe)not specified [RCV004266149]uncertain significance389907038990703Humanname
329359776CV2462280single nucleotide variantNM_014850.4(SRGAP3):c.2425G>C (p.Asp809His)not specified [RCV004266272]uncertain significance389930398993039Humanname
329394016CV2472270single nucleotide variantNM_014850.4(SRGAP3):c.1353C>A (p.Asn451Lys)not specified [RCV004283375]uncertain significance390474469047446Humanname
401725746CV2687231single nucleotide variantNM_014850.4(SRGAP3):c.1470G>T (p.Met490Ile)not specified [RCV004298175]uncertain significance390327199032719Humanname
401777697CV2704280single nucleotide variantNM_014850.4(SRGAP3):c.2732A>G (p.Lys911Arg)not specified [RCV004311270]uncertain significance389906668990666Humanname
401760257CV2709702single nucleotide variantNM_014850.4(SRGAP3):c.2374C>G (p.Leu792Val)not specified [RCV004320698]uncertain significance389943778994377Humanname
401876990CV2764256single nucleotide variantNM_014850.4(SRGAP3):c.2179G>A (p.Asp727Asn)not specified [RCV004336791]uncertain significance390103569010356Humanname
401895742CV2771027single nucleotide variantNM_014850.4(SRGAP3):c.2353C>T (p.Arg785Trp)not specified [RCV004344039]uncertain significance389943988994398Humanname
401892233CV2777346single nucleotide variantNM_014850.4(SRGAP3):c.2075C>T (p.Ala692Val)not specified [RCV004354358]uncertain significance390133809013380Humanname
401864995CV2791442single nucleotide variantNM_014850.4(SRGAP3):c.2654C>T (p.Thr885Ile)not specified [RCV004358831]uncertain significance389907448990744Humanname
401907257CV2802322single nucleotide variantNM_014850.4(SRGAP3):c.2164G>A (p.Glu722Lys)SRGAP3-related disorder [RCV003422510]uncertain significance390103719010371Humanname , trait , alternate_id
405779031CV3330559single nucleotide variantNM_014850.4(SRGAP3):c.1417G>A (p.Ala473Thr)not specified [RCV004458327]uncertain significance390380829038082Humanname
405779044CV3330561single nucleotide variantNM_014850.4(SRGAP3):c.1598A>G (p.Tyr533Cys)not specified [RCV004458329]uncertain significance390269379026937Humanname
405779051CV3330562single nucleotide variantNM_014850.4(SRGAP3):c.1906G>A (p.Ala636Thr)not specified [RCV004458330]uncertain significance390137509013750Humanname
405779056CV3330563single nucleotide variantNM_014850.4(SRGAP3):c.1992G>T (p.Met664Ile)not specified [RCV004458331]uncertain significance390134639013463Humanname
405779066CV3330565single nucleotide variantNM_014850.4(SRGAP3):c.2276C>G (p.Ser759Cys)not specified [RCV004458333]uncertain significance389944758994475Humanname
405779078CV3330567single nucleotide variantNM_014850.4(SRGAP3):c.2600G>A (p.Arg867Gln)not specified [RCV004458335]uncertain significance389907988990798Humanname
405779084CV3330568single nucleotide variantNM_014850.4(SRGAP3):c.2663G>A (p.Arg888Gln)not specified [RCV004458336]uncertain significance389907358990735Humanname
405779090CV3330569single nucleotide variantNM_014850.4(SRGAP3):c.2761G>A (p.Gly921Ser)not specified [RCV004458337]uncertain significance389906378990637Humanname
407516613CV3474765single nucleotide variantNM_014850.4(SRGAP3):c.1886T>C (p.Val629Ala)not specified [RCV004675351]uncertain significance390137709013770Humanname
407516618CV3474767single nucleotide variantNM_014850.4(SRGAP3):c.1501C>T (p.His501Tyr)not specified [RCV004675353]uncertain significance390326889032688Humanname
407516623CV3474769single nucleotide variantNM_014850.4(SRGAP3):c.1588A>T (p.Ile530Phe)not specified [RCV004675355]uncertain significance390269479026947Humanname
597778917CV3611383single nucleotide variantNM_014850.4(SRGAP3):c.2365G>A (p.Val789Met)not specified [RCV004873408]uncertain significance389943868994386Humanname
597778920CV3611384single nucleotide variantNM_014850.4(SRGAP3):c.2638G>C (p.Gly880Arg)not specified [RCV004873409]uncertain significance389907608990760Humanname
597680471CV3611385single nucleotide variantNM_014850.4(SRGAP3):c.2624C>T (p.Pro875Leu)not specified [RCV004857408]uncertain significance389907748990774Humanname
597680478CV3611386single nucleotide variantNM_014850.4(SRGAP3):c.1058C>T (p.Thr353Ile)not specified [RCV004857409]uncertain significance390563009056300Humanname
597680494CV3611388single nucleotide variantNM_014850.4(SRGAP3):c.1516G>A (p.Gly506Ser)not specified [RCV004857411]uncertain significance390326739032673Humanname
597778935CV3611391single nucleotide variantNM_014850.4(SRGAP3):c.2266A>G (p.Met756Val)not specified [RCV004873412]likely benign389944858994485Humanname
597680502CV3611393single nucleotide variantNM_014850.4(SRGAP3):c.1049C>T (p.Pro350Leu)not specified [RCV004857412]uncertain significance390563099056309Humanname
597778941CV3611394single nucleotide variantNM_014850.4(SRGAP3):c.2753G>A (p.Gly918Glu)not specified [RCV004873414]uncertain significance389906458990645Humanname
598273649CV3912117single nucleotide variantNM_014850.4(SRGAP3):c.1861G>A (p.Val621Ile)not specified [RCV005282993]likely benign390137959013795Humanname
598273652CV3912118single nucleotide variantNM_014850.4(SRGAP3):c.1699G>A (p.Asp567Asn)not specified [RCV005282994]uncertain significance390157119015711Humanname
598273658CV3912120single nucleotide variantNM_014850.4(SRGAP3):c.2807C>T (p.Ser936Leu)not specified [RCV005282996]uncertain significance389905918990591Humanname
598273661CV3912121single nucleotide variantNM_014850.4(SRGAP3):c.2430C>G (p.Ser810Arg)not specified [RCV005282997]uncertain significance389930348993034Humanname
598273664CV3912122single nucleotide variantNM_014850.4(SRGAP3):c.2552T>C (p.Met851Thr)not specified [RCV005282998]uncertain significance389929128992912Humanname
598273669CV3912123single nucleotide variantNM_014850.4(SRGAP3):c.2186T>C (p.Val729Ala)not specified [RCV005282999]uncertain significance390103499010349Humanname
598273678CV3912126single nucleotide variantNM_014850.4(SRGAP3):c.1014G>C (p.Met338Ile)not specified [RCV005283001]uncertain significance390582609058260Humanname
598162792CV3912130single nucleotide variantNM_014850.4(SRGAP3):c.2734C>G (p.Arg912Gly)not specified [RCV005283005]uncertain significance389906648990664Humanname
598162799CV3912131single nucleotide variantNM_014850.4(SRGAP3):c.1921C>T (p.Leu641Phe)not specified [RCV005283006]uncertain significance390135349013534Humanname
15162812CV734313single nucleotide variantNM_014850.4(SRGAP3):c.2680A>G (p.Ser894Gly)SRGAP3-related disorder [RCV003975761]|not provided [RCV000903636]benign389907188990718Humanname , trait , alternate_id
15143304CV734315single nucleotide variantNM_014850.4(SRGAP3):c.1882A>G (p.Ile628Val)SRGAP3-related disorder [RCV003910726]|not provided [RCV000899816]benign390137749013774Humanname , trait , alternate_id
15201808CV764184single nucleotide variantNM_014850.4(SRGAP3):c.2543G>A (p.Gly848Glu)not provided [RCV000935767]likely benign389929218992921Humanname
8625674CV80798single nucleotide variantNM_001033117.2(SRGAP3):c.825C>T (p.Ala275=)Malignant melanoma [RCV000060875]not provided390584499058449Humanname
40815143CV970268single nucleotide variantNM_014850.4(SRGAP3):c.2281C>T (p.Arg761Cys)Moyamoya angiopathy [RCV004704510]likely pathogenic389944708994470Humanname
156229445CV2209361single nucleotide variantNM_014850.4(SRGAP3):c.3166C>A (p.Pro1056Thr)not specified [RCV004093535]uncertain significance389856538985653Humanname
156216298CV2253757single nucleotide variantNM_014850.4(SRGAP3):c.3272G>T (p.Ser1091Ile)not specified [RCV004127467]uncertain significance389855478985547Humanname
156263222CV2287704single nucleotide variantNM_014850.4(SRGAP3):c.3196C>T (p.His1066Tyr)not specified [RCV004141124]uncertain significance389856238985623Humanname
329387523CV2436525single nucleotide variantNM_014850.4(SRGAP3):c.3163C>T (p.Pro1055Ser)not specified [RCV004251896]uncertain significance389856568985656Humanname
329400622CV2438577single nucleotide variantNM_014850.4(SRGAP3):c.3070G>T (p.Ala1024Ser)not specified [RCV004261753]uncertain significance389857498985749Humanname
401912333CV2796174single nucleotide variantNM_014850.4(SRGAP3):c.3070G>A (p.Ala1024Thr)SRGAP3-related disorder [RCV003399820]uncertain significance389857498985749Humanname , trait , alternate_id
405779094CV3330570single nucleotide variantNM_014850.4(SRGAP3):c.3178G>T (p.Val1060Leu)not specified [RCV004458338]uncertain significance389856418985641Humanname
407516615CV3474766single nucleotide variantNM_014850.4(SRGAP3):c.3289G>A (p.Gly1097Ser)not specified [RCV004675352]uncertain significance389855308985530Humanname
407516620CV3474768single nucleotide variantNM_014850.4(SRGAP3):c.3257A>T (p.Lys1086Met)not specified [RCV004675354]uncertain significance389855628985562Humanname
408384697CV3504465single nucleotide variantNM_014850.4(SRGAP3):c.3238G>T (p.Ala1080Ser)SRGAP3-related disorder [RCV004731974]uncertain significance389855818985581Humanname , trait , alternate_id
597680486CV3611387single nucleotide variantNM_014850.4(SRGAP3):c.3034C>G (p.Pro1012Ala)not specified [RCV004857410]uncertain significance389857858985785Humanname
598273675CV3912124single nucleotide variantNM_014850.4(SRGAP3):c.3161C>T (p.Pro1054Leu)not specified [RCV005283000]uncertain significance389856588985658Humanname
598273684CV3912128single nucleotide variantNM_014850.4(SRGAP3):c.3148G>C (p.Ala1050Pro)not specified [RCV005283003]uncertain significance389856718985671Humanname
15165246CV734311single nucleotide variantNM_014850.4(SRGAP3):c.3241G>A (p.Val1081Met)SRGAP3-related disorder [RCV003968289]|not provided [RCV000904180]benign389855788985578Humanname , trait , alternate_id
8625672CV80796single nucleotide variantNM_001033117.2(SRGAP3):c.2679C>T (p.Phe893=)Malignant melanoma [RCV000060873]not provided389906478990647Humanname
38462725CV918861single nucleotide variantNM_014850.4(SRGAP3):c.3077G>A (p.Arg1026His)See cases [RCV001196554]uncertain significance389857428985742Humanname
8625673CV80797single nucleotide variantNM_001033117.2(SRGAP3):c.1595C>T (p.Ser532Phe)Malignant melanoma [RCV000060874]not provided390252729025272Humanname
8630962CV86118single nucleotide variantNM_001033117.2(SRGAP3):c.2219C>T (p.Ser740Phe)Malignant melanoma [RCV000066202]not provided389944608994460Humanname